ODCs

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1 OMIM reference -
5 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Generalized junctional epidermolysis bullosa, non-Herlitz type

Erythrocyte galactose epimerase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMA3	(0.63)	GALE

Citations in the biomedical literature:

Generalized junctional epidermolysis bullosa, non-Herlitz type		Erythrocyte galactose epimerase deficiency
	Synonym(s): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type		Synonym(s): - Erythrocyte GALE deficiency - Erythrocyte GALE-D - Erythrocyte UDP-galactose-4-epimerase deficiency - Erythrocyte epimerase deficiency galactosemia - Erythrocyte uridine diphosphate galactose-4-epimerase deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references

Generalized junctional epidermolysis bullosa, non-Herlitz type
	Very frequent - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Abnormal toenails Occasional - Anomalies of teeth and dentition
Erythrocyte galactose epimerase deficiency
(no data available)